{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T08:52:19Z","timestamp":1778662339685,"version":"3.51.4"},"reference-count":32,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["KU 911\/21\u20132"],"award-info":[{"award-number":["KU 911\/21\u20132"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2019,5]]},"DOI":"10.1016\/j.nmd.2019.02.009","type":"journal-article","created":{"date-parts":[[2019,2,25]],"date-time":"2019-02-25T12:10:34Z","timestamp":1551096634000},"page":"358-367","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia"],"prefix":"10.1016","volume":"29","author":[{"given":"Elena","family":"Schlapakow","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viktoriya","family":"Peeva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e1bor","family":"Zsurka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Jeub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bettina","family":"Wabbels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia","family":"Kornblum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1113-3493","authenticated-orcid":false,"given":"Wolfram S.","family":"Kunz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2019.02.009_bib0001","series-title":"Muskelerkrankungen","first-page":"274","author":"Zierz","year":"2014"},{"issue":"12","key":"10.1016\/j.nmd.2019.02.009_bib0002","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1038\/nrg3275","article-title":"Human mitochondrial DNA: roles of inherited and somatic mutations","volume":"13","author":"Schon","year":"2012","journal-title":"Nat Rev Genet"},{"issue":"2","key":"10.1016\/j.nmd.2019.02.009_bib0003","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/wrna.27","article-title":"Mitochondrial tRNA mutations and disease","volume":"1","author":"Yarham","year":"2010","journal-title":"Wiley Interdiscip Rev RNA"},{"issue":"10","key":"10.1016\/j.nmd.2019.02.009_bib0004","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmedgenet-2013-101604","article-title":"Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders","volume":"50","author":"Bannwarth","year":"2013","journal-title":"J Med Genet"},{"issue":"11","key":"10.1016\/j.nmd.2019.02.009_bib0005","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1002\/humu.21575","article-title":"A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations","volume":"32","author":"Yarham","year":"2011","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1016\/j.nmd.2019.02.009_bib0006","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/ajmg.1392","article-title":"Mitochondrial DNA mutations in human disease","volume":"106","author":"DiMauro","year":"2001","journal-title":"Am J Med Genet"},{"issue":"7","key":"10.1016\/j.nmd.2019.02.009_bib0007","doi-asserted-by":"crossref","first-page":"3340","DOI":"10.1167\/iovs.09-4659","article-title":"Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO","volume":"51","author":"Greaves","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.nmd.2019.02.009_bib0008","series-title":"Muscle biopsy, a practical approach","author":"Dubowitz","year":"2013"},{"issue":"1","key":"10.1016\/j.nmd.2019.02.009_bib0009","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1006\/abio.1999.4434","article-title":"Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples","volume":"279","author":"Wiedemann","year":"2000","journal-title":"Anal Biochem"},{"issue":"1","key":"10.1016\/j.nmd.2019.02.009_bib0010","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1086\/518901","article-title":"Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A>G","volume":"81","author":"Durham","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"9","key":"10.1016\/j.nmd.2019.02.009_bib0011","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1097\/NEN.0b013e3181839b2d","article-title":"Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma","volume":"67","author":"Zsurka","year":"2008","journal-title":"J Neuropathol Exp Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2019.02.009_bib0012","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ab.2007.06.024","article-title":"A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells","volume":"370","author":"Krishnan","year":"2007","journal-title":"Anal Biochem"},{"issue":"14","key":"10.1016\/j.nmd.2019.02.009_bib0013","doi-asserted-by":"crossref","first-page":"3349","DOI":"10.1113\/jphysiol.2012.230185","article-title":"Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects","volume":"590","author":"Larsen","year":"2012","journal-title":"J Physiol"},{"issue":"12","key":"10.1016\/j.nmd.2019.02.009_bib0014","doi-asserted-by":"crossref","first-page":"e124","DOI":"10.1136\/jmg.2004.022566","article-title":"Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism","volume":"41","author":"Zsurka","year":"2004","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.nmd.2019.02.009_bib0015","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.nmd.2013.01.001","article-title":"Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis","volume":"23","author":"Pin\u00f3s","year":"2013","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"10.1016\/j.nmd.2019.02.009_bib0016","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.bbrc.2011.06.155","article-title":"Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene","volume":"412","author":"Bruno","year":"2011","journal-title":"Biochem Biophys Res Commun"},{"issue":"9","key":"10.1016\/j.nmd.2019.02.009_bib0017","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1002\/humu.22358","article-title":"Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease","volume":"34","author":"Blakely","year":"2013","journal-title":"Hum Mutat"},{"issue":"12","key":"10.1016\/j.nmd.2019.02.009_bib0018","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1515\/bchm3.1993.374.7-12.1099","article-title":"Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA","volume":"374","author":"M\u00fcnscher","year":"1993","journal-title":"Biol Chem Hoppe Seyler"},{"issue":"2","key":"10.1016\/j.nmd.2019.02.009_bib0019","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1006\/bbrc.1994.2485","article-title":"Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene","volume":"204","author":"Seibel","year":"1994","journal-title":"Biochem Biophys Res Commun"},{"issue":"Pt 5","key":"10.1016\/j.nmd.2019.02.009_bib0020","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1093\/brain\/124.5.984","article-title":"Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders","volume":"124","author":"Sternberg","year":"2001","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.nmd.2019.02.009_bib0021","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1016\/j.bbrc.2005.02.083","article-title":"A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease","volume":"329","author":"Coulbault","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"issue":"12","key":"10.1016\/j.nmd.2019.02.009_bib0022","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1016\/j.nmd.2004.09.002","article-title":"Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G>A mitochondrial DNA mutation","volume":"14","author":"Spinazzola","year":"2004","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"10.1016\/j.nmd.2019.02.009_bib0023","doi-asserted-by":"crossref","first-page":"2906","DOI":"10.1172\/JCI116913","article-title":"Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?","volume":"92","author":"Moraes","year":"1993","journal-title":"J Clin Invest"},{"issue":"12","key":"10.1016\/j.nmd.2019.02.009_bib0024","doi-asserted-by":"crossref","first-page":"6831","DOI":"10.1128\/MCB.17.12.6831","article-title":"A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn)","volume":"17","author":"Hao","year":"1997","journal-title":"Mol Cell Biol"},{"issue":"5","key":"10.1016\/j.nmd.2019.02.009_bib0025","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1023\/A:1025133629685","article-title":"Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA","volume":"26","author":"Vives-Bauza","year":"2003","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"10.1016\/j.nmd.2019.02.009_bib0026","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ejhg.2011.238","article-title":"The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment","volume":"20","author":"Ronchi","year":"2012","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"10.1016\/j.nmd.2019.02.009_bib0027","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1001\/archneur.63.8.1194","article-title":"A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure","volume":"63","author":"Meulemans","year":"2006","journal-title":"Arch Neurol"},{"issue":"6","key":"10.1016\/j.nmd.2019.02.009_bib0028","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0039-6257(05)80055-4","article-title":"Extraocular muscles: basic and clinical aspects of structure and function","volume":"39","author":"Porter","year":"1995","journal-title":"Surv Ophthalmol"},{"issue":"8","key":"10.1016\/j.nmd.2019.02.009_bib0029","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1001\/archophthalmol.2011.75","article-title":"Development of extraocular muscles requires early signals from periocular neural crest and the developing eye","volume":"129","author":"Bohnsack","year":"2011","journal-title":"Arch Ophthalmol"},{"issue":"7","key":"10.1016\/j.nmd.2019.02.009_bib0030","doi-asserted-by":"crossref","first-page":"3347","DOI":"10.1167\/iovs.09-4660","article-title":"Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles","volume":"51","author":"Yu-Wai-Man","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"10.1016\/j.nmd.2019.02.009_bib0031","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.nmd.2004.10.002","article-title":"Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders","volume":"15","author":"Yu Wai Man","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2019.02.009_bib0032","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/srep15037","article-title":"A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis","volume":"5","author":"Rocha","year":"2015","journal-title":"Sci Rep"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896618311945?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896618311945?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:08:15Z","timestamp":1760774895000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896618311945"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5]]},"references-count":32,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["S0960896618311945"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2019.02.009","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2019,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2019.02.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}